← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 18-63897119-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=63897119&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 63897119,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002575.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Ser106Tyr",
"transcript": "NM_002575.3",
"protein_id": "NP_002566.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 415,
"cds_start": 317,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": "ENST00000299502.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Ser106Tyr",
"transcript": "ENST00000299502.9",
"protein_id": "ENSP00000299502.4",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 415,
"cds_start": 317,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": "NM_002575.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Ser106Tyr",
"transcript": "NM_001143818.2",
"protein_id": "NP_001137290.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 415,
"cds_start": 317,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Ser106Tyr",
"transcript": "ENST00000457692.5",
"protein_id": "ENSP00000401645.1",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 415,
"cds_start": 317,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Ser106Tyr",
"transcript": "ENST00000413956.5",
"protein_id": "ENSP00000402386.1",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 160,
"cds_start": 317,
"cds_end": null,
"cds_length": 483,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Ser106Tyr",
"transcript": "ENST00000443281.1",
"protein_id": "ENSP00000397096.1",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 131,
"cds_start": 317,
"cds_end": null,
"cds_length": 398,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Ser106Tyr",
"transcript": "ENST00000404622.5",
"protein_id": "ENSP00000385397.1",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 112,
"cds_start": 317,
"cds_end": null,
"cds_length": 341,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Ser106Tyr",
"transcript": "XM_024451192.2",
"protein_id": "XP_024306960.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 415,
"cds_start": 317,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 3522,
"cdna_end": null,
"cdna_length": 5036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "n.273C>A",
"hgvs_p": null,
"transcript": "ENST00000482254.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289724",
"gene_hgnc_id": null,
"hgvs_c": "c.-56C>A",
"hgvs_p": null,
"transcript": "ENST00000418725.1",
"protein_id": "ENSP00000392381.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289724",
"gene_hgnc_id": null,
"hgvs_c": "c.-56C>A",
"hgvs_p": null,
"transcript": "ENST00000397996.6",
"protein_id": "ENSP00000381082.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": -4,
"cds_end": null,
"cds_length": 839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"dbsnp": "rs1026386750",
"frequency_reference_population": 0.000006570302,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000065703,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20876243710517883,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.1362,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.271,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002575.3",
"gene_symbol": "SERPINB2",
"hgnc_id": 8584,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Ser106Tyr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000418725.1",
"gene_symbol": "ENSG00000289724",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-56C>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}